All For One - Caring For The Families With A Rare Disease - Part 2
It is essential to recognise the issues people with rare diseases facing are ongoing and require continuous attention, advocacy and support. Genetic counselors play a huge role in raising awareness about rare disease.
To understand the challenges faced by people with rare diseases, read Part One
Role Of Genetic Counseling
Genetic counselors are professionals who can help fill in the gaps in the system. We often work in a multidisciplinary team crossing over multiple clinical specialties, special educators, NGOs and families. Primarily, genetic counselors involve families during pretest to help in collecting personal and family history, risk assessment, understanding the possible genetic basis and options for genetic testing.
Genetic counselors help in facilitating decisions regarding one’s genetic health. Of course our work does not stop with diagnosis and post test counseling. We often follow families long term post their diagnosis to help them cope with the findings, give emotional support, understand the implications for their family and also to make informed medical decisions.
Genetic counselors play an important role in patient advocacy. This is also true in other countries where genetic counseling is a well established field of medicine. They participate in extending care include working towards a cause by being a part of various patient lead organizations for genetic conditions, be a part of government organizations, involve in non-profit organizations by raising awareness in the community and also participate in policy making.
With increased access to diagnosis, improved treatment and management options and increasing science literacy,more families and individuals are able to identify rare diseases. However, many families with rare diseases often do not find care under one roof which tends to increase the burden of management. This is further complicated by myths, societal perception of normalcy and limited access to vocational jobs and inclusivity.
Education in mainstream schools is often challenging for children with learning disabilities or diagnosis with autism. Many schools are accepting of children with special needs but have limited resources to help children adapt and improve in mainstream schools forcing parents to move them to schools for children with special needs. We have come a long way as a society to bring individuals who are differently abled to the mainstream society.
Recently, Manasi Joshi was awarded the Arjuna Award for her contribution to the field of parabadmitton. It’s inspiring to see the journey of Virali Modi, the first model in India with disability, breaking various stereotypes of the beauty industry. These stalwarts have inspired millions. However not everyone with special needs has the same access or support. This disparity is even more pronounced for families with rare diseases. These families face the brunt of isolation and diagnostic odyssey and extended periods of stress. It is our responsibility as a society to take everyone along, reduce the gaps in care.
A Note for Genetic Counselors
In India, as of now very few genetic counselors are involved in roles beyond providing genetic counseling and providing short term follow up. Few genetic counselors are involved in governmental organizations or NGOs in advocacy roles . The profession of genetic counselors is growing exponentially with varied roles in clinical and industrial settings. We as a society of genetic counselors can have an impact on the community by educating, building awareness and advocating for families with rare diseases.
Genetic counselors can involve themselves with local chapters or parent led groups to improve awareness and acceptance of genetic diseases. They can help families communicate medical information to schools or employers to help individuals with special needs become part of mainstream society. They can also participate in policy making and raising awareness to the scientific and governing bodies about requirements to reduce disparities for families with special needs. The profession of genetic counselor is novice however with the growth of genomics we find ourselves in an evolving role that goes beyond diagnosis and management.
At Mapmygenome we offer genetic counseling services with a team of board certified, experienced genetic counselors. If you would like to set up a genetic counseling appointment as you have a personal or family history suspicious of any rare genetic conditions, CALL US on 1800 102 4595 (toll-free) or WhatsApp at 8688310052.